Conditions / Genetic
neurogenic scapuloperoneal syndrome Kaeser type
info · Genetic
A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35.
Signs and symptoms
- Scapuloperoneal weakness
- Shoulder girdle muscle atrophy
- Rimmed vacuoles
- Talipes equinovarus
- Peroneal muscle atrophy
- Gynecomastia
- Z-band streaming
- Dysphagia
- Weakness of facial musculature
- Foot dorsiflexor weakness
Also known as: Kaeser syndrome; Stark-Kaeser syndrome; scapuloperoneal syndrome type Kaeser; scapuloperoneal syndrome, neurogenic, Kaeser type